Re: encephalopathy....new diagnosis. Thanks!

[Guest guest]

Everyone's responses are always so helpful. I actually didn't take offense to

the post about parents profiting at their child's expense. I knew it must have

been misunderstood or misinterpreted something...

My daughter, Eva, is quite a unique child. She will be 3 tomorrow and is

not walking, crawling or talking yet, eating is difficult for her, and also has

strabismus. She fits into the category of global apraxia, because she has

obvious motor planning issues. She also fits into the category of CP, because

she does know what she wants her body to do, but she just doesn't have the

muscle control to do it. It really is a mix of both. She struggles so much,

becuase her intelligence is age- appropriate, if not above average. She knows

exactly what she wants to do, but dosen't have the motor planning or

muscle/neurological coordination to execute it. We never vaccinated her, I ate

organic food all through my pregnancy...beautiful, natural birth, non-toxic

home, etc...She is GFCFSF. We are revisiting genetics in a few weeks at CHOP.

Maybe they can give us more answers. Last year we had 30 visits total for

speech, OT and PT (out of network) COMBINED!! We paid A LOT out of

pocket for therapy and doctors. We are very committed to NACD ( I am SO

GRATEFUL we found them...thanks to this board) and we are also starting a

custom, designed just for Eva, ABA/VB program ( I know this has been talked

about on this board before, but I am confident that he program will be perfect

for her needs..this is unlike a traditional ABA program) That being said, our

first set up month of the program (with the consultant and people she will be

training...) is $8,000 out of pocket... We also are working with Dr. Neubrander

(thanks to Kathy, 's mom on here) and we want to do HBOT soon. Eva's

needs are far beyond a child with apraxia...we really needed the encephalopathy

diagnosis to get as much help as we can. Our neuro did what he though would get

Eva the most help. I really am keeping my fingers crossed...

:-) tara in NJ

---------------------------------

Be a better friend, newshound, and know-it-all with Mobile. Try it now.

[Guest guest]

I wish you well on your journey and hope you find the answers that

will give her the best shot at full health and development.

>

> Everyone's responses are always so helpful. I actually didn't take

offense to the post about parents profiting at their child's

expense. I knew it must have been misunderstood or misinterpreted

something...

> My daughter, Eva, is quite a unique child. She will be 3

tomorrow and is not walking, crawling or talking yet, eating is

difficult for her, and also has strabismus. She fits into the

category of global apraxia, because she has obvious motor planning

issues. She also fits into the category of CP, because she does know

what she wants her body to do, but she just doesn't have the muscle

control to do it. It really is a mix of both. She struggles so much,

becuase her intelligence is age- appropriate, if not above average.

She knows exactly what she wants to do, but dosen't have the motor

planning or muscle/neurological coordination to execute it. We never

vaccinated her, I ate organic food all through my

pregnancy...beautiful, natural birth, non-toxic home, etc...She is

GFCFSF. We are revisiting genetics in a few weeks at CHOP. Maybe

they can give us more answers. Last year we had 30 visits total for

speech, OT and PT (out of network) COMBINED!! We paid A LOT out of

> pocket for therapy and doctors. We are very committed to NACD ( I

am SO GRATEFUL we found them...thanks to this board) and we are also

starting a custom, designed just for Eva, ABA/VB program ( I know

this has been talked about on this board before, but I am confident

that he program will be perfect for her needs..this is unlike a

traditional ABA program) That being said, our first set up month of

the program (with the consultant and people she will be training...)

is $8,000 out of pocket... We also are working with Dr. Neubrander

(thanks to Kathy, 's mom on here) and we want to do HBOT soon.

Eva's needs are far beyond a child with apraxia...we really needed

the encephalopathy diagnosis to get as much help as we can. Our

neuro did what he though would get Eva the most help. I really am

keeping my fingers crossed...

>

> :-) tara in NJ

>

>

> ---------------------------------

> Be a better friend, newshound, and know-it-all with Mobile.

Try it now.

>

>

[Guest guest]

Tara,

We will all be rooting for Eva and we look forward to hearing about all of her

successes..... and I just know that there will be many in front of her.

What types of things is NACD having you do to get little Eva crawling? Good

luck with putting the ABA therapy together. More is always better for some of

the babies and for the severely injured, much of the day must be devoted to

health and healing.

I am sooooo thinking of you right now. Call out when it gets too much for I

recognize how much NACD will work you..... A LOT! We will be here to keep you

strong and to try to energize you when you feel tired or down.....

Janice

[Guest guest]

Tara we all wish the best for your daughter and it is apparent that

you are exploring many alternative treatments for her. When you say

she is not walking, crawling or talking yet and she is almost 3 years

old- what does Eva enjoy to do in regards to play? What are you

going to do for her birthday party tomorrow? HAPPY BIRTHDAY EVA!!!

If she could get or do anything for her birthday what would it be?

Let us know if she is able to blow out those candles and hope she has

an incredible and special day!

How does Eva communicate with anyone right now? Is she able to do

simple sign or PECS? Does she have an augmentative device? Is she

showing frustration at all?

In addition to motor planning deficits -I know you said she fits the

category of CP too which many in theory could with tone issues in the

muscles. Does she have both hypo as well as hypertonia? What types

of motor planning and strengthening therapies does she receive? How

often and are the one on one or in group?

Since you are in Jersey and there are some awesome neurologists and

developmental pediatricians there -which have you taken her to and

what do they recommend in regards to therapy? Would you consider

taking her to Dr. Marilyn Agin? She was my son Tanner's

neurodevelopmental pediatrician, and she is also my co author of The

Late Talker and I highly recommend her. It sounds like your

daughter's dealing with much more than most here and I know you want

to do as much to help her -and as Liz said all of us are rooting for

her too.

I'm advising you to have one key expert to oversee all you do with

her that both understands global apraxia as well as all the

strategies you are doing as well as her carnitine deficiency. Some

of the strategies you mention are not historically or professionally

proven effective for global apraxia/hypotonia. In addition to the

global apraxia and profound global developmental delays such as not

crawling or walking at almost 3 -I'm also including information below

about her carnitine deficiency since she's tested to have that as

well. (I have your post below and below that one posted by Tina who

has a child that was also tested to be carnitine deficient - is now

on prescription carnitine and doing very well!)

PS you were very wise to test her prior to supplementation of carnitine!!

Archive from you

" My daughter came up low in carnitine, so I know this is an important

supplement

for her, but I'm having a hard time getting her to take it....I have

the

capsules. I was putting it in ketchup or peanut butter and the taste

was hidden

well, but now she can't have either one....we are on a yeat-free

diet. Any

suggestions? She just turned two. :-) Tara "

~~~~~~~~~~~~~~start of archives about carnitine deficiency from Tina

Going to a geneticist that specializes in metabolic disorders would

be very helpful. My understanding from what I have read a biopsy

helps confirm mito disorders. Lab work is first though. The link

below might help you find more answers.

http://www.umdf.org/site/c.dnJEKLNqFoG/b.3041929/

United Mitochondrial Disease Foundation

Mitochondrial Disease

What are mitochondria?

A mitochondrion (singular of mitochondria) is part of every cell in

the body that contains genetic material. Mitochondria are responsible

for processing oxygen and converting substances from the foods we eat

into energy for essential cell functions. Mitochondria produce energy

in the form of adenosine triphosphate (ATP), which is then

transported to the cytoplasm of a cell for use in numerous cell

functions.

What are mitochondrial and metabolic diseases?

Mitochondrial medicine is a new and rapidly developing medical

subspecialty. Many specialists are involved in researching

mitochondrial diseases, including doctors specializing in metabolic

diseases, cell biologists, molecular geneticists, neurologists,

biochemists, pathologists, immunologists, and embryologists. Much of

what we know about these diseases has been discovered since 1940. In

1959, the first patient was diagnosed with a mitochondrial disorder.

In 1963, researchers discovered that mitochondria have their own DNA

or " blueprint " (mtDNA), which is different than the nuclear DNA

(nDNA) found in the cells' nucleus.

Mitochondrial and metabolic medical conditions are now referred to as

mitochondrial cytopathies. Mitochondrial cytopathies actually include

more than 40 different identified diseases that have different

genetic features. The common factor among these diseases is that the

mitochondria are unable to completely burn food and oxygen in order

to generate energy.

The process of converting food and oxygen (fuel) into energy requires

hundreds of chemical reactions, and each chemical reaction must run

almost perfectly in order to have a continuous supply of energy. When

one or more components of these chemical reactions does not run

perfectly, there is an energy crisis, and the cells cannot function

normally. As a result, the incompletely burned food might accumulate

as poison inside the body.

This poison can stop other chemical reactions that are important for

the cells to survive, making the energy crisis even worse. In

addition, these poisons can act as free radicals (reactive substances

that readily form harmful compounds with other molecules) that can

damage the mitochondria over time, causing damage that cannot be

reversed. Unlike nuclear DNA, mitochondrial DNA has very limited

repair abilities and almost no protective capacity to shield the

mitochondria from free radical damage.

What are the symptoms of mitochondrial diseases?

The types of mitochondrial diseases are categorized according to the

organ systems affected and symptoms present. Mitochondrial diseases

might affect the cells of the brain, nerves (including the nerves to

the stomach and intestines), muscles, kidneys, heart, liver, eyes,

ears, or pancreas. In some patients, only one organ is affected,

while in other patients all the organs are involved. Depending on how

severe the mitochondrial disorder is, the illness can range in

severity from mild to fatal.

Depending on which cells of the body are affected, symptoms might

include:

Poor growth

Loss of muscle coordination, muscle weakness

Visual and/or hearing problems

Developmental delays, learning disabilities

Mental retardation

Heart, liver, or kidney disease

Gastrointestinal disorders, severe constipation

Respiratory disorders

Diabetes

Increased risk of infection

Neurological problems, seizures

Thyroid dysfunction

Dementia (mental disorder characterized by confusion, disorientation,

and memory loss)

How common are mitochondrial diseases?

About one in 4,000 children in the United States will develop

mitochondrial disease by the age of 10 years. One thousand to 4,000

children per year in the United Sates are born with a type of

mitochondrial disease.

In adults, many diseases of aging have been found to have defects of

mitochondrial function. These include, but are not limited to, type 2

diabetes, Parkinson's disease, atherosclerotic heart disease, stroke,

Alzheimer's disease, and cancer. In addition, many medicines can

injure the mitochondria.

What causes mitochondrial disease?

For many patients, mitochondrial disease is an inherited condition

that runs in families (genetic). An uncertain percentage of patients

acquire symptoms due to other factors, including mitochondrial toxins.

It is important to determine which type of mitochondrial disease

inheritance is present, in order to predict the risk of recurrence

for future children.

The types of mitochondrial disease inheritance include:

nDNA (DNA contained in the nucleus of the cell) inheritance. Also

called autosomal inheritance.

-- If this gene trait is recessive (one gene from each parent), often

no other family members appear to be affected. There is a 25 percent

chance of the trait occurring in other siblings.

-- If this gene trait is dominant (a gene from either parent), the

disease often occurs in other family members. There is a 50 percent

chance of the trait occurring in other siblings.

mtDNA (DNA contained in the mitochondria) inheritance.

-- There is a 100 percent chance of the trait occurring in other

siblings, since all mitochondria are inherited from the mother,

although symptoms might be either more or less severe.

Combination of mtDNA and nDNA defects:

-- Relationship between nDNA and mtDNA and their correlation in

mitochondrial formation is unknown

Random occurrences

Diseases specifically from deletions of large parts of the

mitochondrial DNA molecule are usually sporadic without affecting

other family member

-- Medicines or other toxic substances can trigger mitochondrial

disease

How are mitochondrial diseases diagnosed?

Diagnosis of mitochondrial disease can be invasive, expensive, time-

consuming, and labor-intensive. Therefore, evaluation is not taken

lightly. Doctors experienced in diagnosing and treating these

diseases will take either a step-wise approach to diagnosis or, in

some centers, the evaluation takes place over a few days. The

evaluation includes a combination of clinical observations and

laboratory tests.

Under ideal circumstances, the evaluation will produce an answer.

However, even after a complete evaluation, the doctor might not be

able to confirm a specific diagnosis or put a name to the disorder.

In many cases, however, the physician will be able to identify which

patients do and don't have metabolic diseases.

Mitochondrial disease is diagnosed by:

Evaluating the patient's family history

Performing a complete physical examination

Performing a neurological examination

Performing a metabolic examination that includes blood, urine, and

optional cerebral spinal fluid tests

Performing other tests, depending on the patient's specific condition

and needs. These tests might include:

-- Magnetic resonance imaging (MRI) or scan (MRS) if neurological

symptoms are present

-- Retinal exam or electroretinogram if vision symptoms are present

-- Electrocardiogram (EKG) or echocardiogram if heart disease

symptoms are present

-- Audiogram or BAEP if hearing symptoms are present

-- Blood test to detect thyroid dysfunction if thyroid problems are

present

-- Blood test to perform genetic DNA testing

More invasive tests, such as a skin or muscle biopsy, might be

performed as needed and recommended by your doctor.

How are mitochondrial diseases treated?

There are no cures for mitochondrial diseases, but treatment can help

reduce symptoms, or delay or prevent the progression of the disease.

Treatment is individualized for each patient, as doctors specializing

in metabolic diseases have found that every child and adult

is " biochemically different. " That means that no two people will

respond to a particular treatment in a specific way, even if they

have the same disease.

Certain vitamin and enzyme therapies, along with occupational and

physical therapy, might be helpful for some patients.

Vitamins and supplements prescribed might include:

- Coenzyme Q10

- B complex vitamins: thiamine (B1), riboflavin (B2), niacin (B3),

B6, folate, B12, biotin, pantothenic acid

- Vitamin E, lipoic acid, selinium, and other antioxidants

- L-carnitine (Carnitor®)

- Intercurrent illness supplement: vitamin C, biotin

Diet therapy, as prescribed by your doctor along with a registered

dietitian, might be recommended.

Antioxidant treatments as protective substances are currently being

investigated as another potential treatment method.

Important: Specific treatments should always be guided by a metabolic

specialist. Patients should not take any of these supplements or try

any of the treatments unless prescribed by a doctor. Taking

inappropriate supplements or treatments might lead to delays or

failure in establishing an accurate diagnosis.

What is the prognosis or outlook?

Once a patient is diagnosed with a specific mitochondrial disease,

the patient's medical problems have already been identified or can be

identified with proper testing so treatment can be initiated to

relieve symptoms and delay the progression of the disease.

There is no way to predict the course of mitochondrial diseases. They

might progress quickly or slowly, even over decades. The disease

might also appear stable for years.

For parents considering having other children, genetic counseling is

available. Although complex, prenatal testing is only available for a

few types of mitochondrial disorders. Please discuss your concerns

with your doctor.

©Copyright 1995-2007 Cleveland Clinic. All rights reserved.

Can't find the health information you're looking for? Ask a Health

Educator, Live!

Click here to go to the Medical Genetics Program Web site.

Know someone who could use this information?....send them this link.

--------------------------------

What causes mitochondrial disease?

For many patients, mitochondrial disease is an inherited condition

that runs in families (genetic). An uncertain percentage of patients

acquire symptoms due to other factors, including mitochondrial toxins.

It is important to determine which type of mitochondrial disease

inheritance is present, in order to predict the risk of recurrence

for future children.

---------------------------------

There is a difference of genetics and acquired mitochondrial

dysfunction due to toxins. Because I am not a doctor, I am not going

to pretend to know all there is to know about mito disorders. I do

know that many people are faced with the diagnosis of suspected mito

disorder. It is very complex and one should really visit a doctor

that specializes in metabolic disorders if this is a possibility for

their child.

Tina

~~~~~~~~end of archive

=====

[Guest guest]

Hi , Thanks fr your reply. Here are some answers to your questions. They

way Eva gets around is by scooting. So she plays as best as she can given her

fine motor delays, but always likes to be exploring or doing things...especially

with her older brother (he is 6)

Her communication: She is very frustrated. Right now she has a few signs,

but she points and we read her mind well. She screams a lot to get our

attention and her needs met.

She does have high on top of low tone. Right now we are doing activities

through NACD. This has helped the high tone, somewhat... She causes the high

tone. When she is distracted,the high tone is not there...her muscles are

relaxed. We did traditional therapy in the past, but just weren't seeing

progress. I am hoping to try to work some in with the new program we are

designing. I have your book and in your opinion, what could Dr. Again provide

for Eva? I guess I feel like we are always going to some appointment for Eva

(this is hard for her brother) and we already see Dr Abba Cargan (ped. neuro)

and I guess I didn't want to overlap specialists. I'd love to hear your

thoughts on this...

We saw Dr Cargan on Friday and he has said that despite her motor planning

issues, her reaction time for an almost 3 year old was above average when she

was engaged...like trying to get something you have or avoid me when trying to

do deep pressure on her hands. But, she could be playing and lean to one side

and fall over because she didn't put her hand out to stop herself. i don't know

what it means, but I thought it was interesting.

We actually don't have her on carnitine now...back on Feb of 2007, we were

seeing a DAN that suggested carnitine based on her test results, but I had

difficulty getting it in her and it didn't seem to be doing anything for her, so

we stopped. In 2 weeks, we will be done with her trial of MB-12 injections and

I will try again, since she is now swallowing pills. Thank you for the info on

mitochondria disease. I printed it out and will pursue testing for it. Who do

you think would be an appropriate doctor to ask for this? our DAN, CHOP

genetics?

Thanks. Tara

:-) tara

---------------------------------

Never miss a thing. Make your homepage.

[Guest guest]

>Thank you for the info on mitochondria disease. I printed it out and

>will pursue testing for it. Who do you think would be an appropriate

>doctor to ask for this? our DAN, CHOP genetics?

Dr. Shoffner in Atlanta is the leading expert in the country from

everything I have read; however, Dr. Vockley in Pittsburgh gets very

high ratings.

http://www.chp.edu/bio2/vockley_g.php

M.

[Guest guest]

Hi Tara!

I don't know if the DAN you took her to is an MD as not all are

medical doctors -but even if he or she was -the advice is to take her

to a geneticist that specializes in metabolic disorders so I'd say

the CHOP genetic team would be the best to share Eva's carnitine

deficiency with. I'm sure even if she didn't want to take her

prescription carnitine there are ways to get her to. If she really

needs it -it could be life saving to take it.

Also no harm in talking to Eva and letting her know that you

understand that she doesn't like the taste of it- but that the

carnitine may greatly help her be able to achieve what she is trying

desperately to do -walk -talk etc.

I'm happy to hear that Eva is showing frustration because to me

that means she is aware that there is so much more she wants to do -

and now to just help her achieve those goals. Speaking of which that

is another thing that's best to have a hero for (hero meaning one

expert to oversee all) Eva's hero will provide 3 and 6 month goals

for her that can be used by all those that work with her - the

therapists that are through EI now as well as private ones -as well

as the EI through the school that should be starting soon. Eva

needs a hero that knows what really is best for her and what can be

put on the side for now. The main goal is to find out why she has a

carnitine deficiency since that may relate to some of her other

developmental delays right now.

You are seeing a great pediatric neurologist. Dr. Cargan is a

neurologist that is recommended in this group and he and Dr. Agin

respect each other -Dr. Cargan refers to Dr. Agin - so no issues with

that. What's unique about Dr. Agin is that she was a practicing

speech pathologist for seven years prior to medical school so she has

an insight on communication impairments together with the

neurological aspects that most neurologists don't have. In all the

years in this uncensored group she has helped so many and has gone

above and beyond to help. So what do I think she can do that others

didn't? To me she is the best one out there since she's got the

background, insight and experience. She can oversee as Eva's hero.

Marilyn C. Agin, MD, FAAP

Neurodevelopmental Pediatrician

79 Laight St. #1A

New York, NY 10013

212-274-9180 (phone)

212-219-3688 (fax)

My one niece used to scoot along the floor too before she learned to

walk and her nickname was " Skootch " My husband Glenn used to call

her " Skootchy Girl " which always made her smile - so cute! Of course

once she started walking the nickname faded. We've got to get your

Skootchy girl up and walking too! Hey it's just a 1/2 hour from

Eva's 3rd birthday!! Have a wonderful day with your little angel!

=====

[Guest guest]

here, not . I always like CHOP, when you can get an

appointment. We've seen docs there with three of our kids in

probably a half dozen specialties (or more!) I thought they were the

best across the board, except I didn't like Spergel the allergist.

in NJ

>

> Hi , Thanks fr your reply. Here are some answers to your

questions. They way Eva gets around is by scooting. So she plays as

best as she can given her fine motor delays, but always likes to be

exploring or doing things...especially with her older brother (he is

6)

>

> Her communication: She is very frustrated. Right now she has a

few signs, but she points and we read her mind well. She screams a

lot to get our attention and her needs met.

>

> She does have high on top of low tone. Right now we are doing

activities through NACD. This has helped the high tone, somewhat...

She causes the high tone. When she is distracted,the high tone is

not there...her muscles are relaxed. We did traditional therapy in

the past, but just weren't seeing progress. I am hoping to try to

work some in with the new program we are designing. I have your book

and in your opinion, what could Dr. Again provide for Eva? I guess I

feel like we are always going to some appointment for Eva (this is

hard for her brother) and we already see Dr Abba Cargan (ped. neuro)

and I guess I didn't want to overlap specialists. I'd love to hear

your thoughts on this...

>

> We saw Dr Cargan on Friday and he has said that despite her motor

planning issues, her reaction time for an almost 3 year old was above

average when she was engaged...like trying to get something you have

or avoid me when trying to do deep pressure on her hands. But, she

could be playing and lean to one side and fall over because she

didn't put her hand out to stop herself. i don't know what it means,

but I thought it was interesting.

>

> We actually don't have her on carnitine now...back on Feb of

2007, we were seeing a DAN that suggested carnitine based on her test

results, but I had difficulty getting it in her and it didn't seem to

be doing anything for her, so we stopped. In 2 weeks, we will be

done with her trial of MB-12 injections and I will try again, since

she is now swallowing pills. Thank you for the info on mitochondria

disease. I printed it out and will pursue testing for it. Who do

you think would be an appropriate doctor to ask for this? our DAN,

CHOP genetics?

>

> Thanks. Tara

>

> :-) tara

>

>

> ---------------------------------

> Never miss a thing. Make your homepage.

>

>

[Guest guest]

We saw a very nice neuro there who could say nothing about the speech

lag?????????

> >

> > Hi , Thanks fr your reply. Here are some answers to your

> questions. They way Eva gets around is by scooting. So she plays

as

> best as she can given her fine motor delays, but always likes to be

> exploring or doing things...especially with her older brother (he

is

> 6)

> >

> > Her communication: She is very frustrated. Right now she has

a

> few signs, but she points and we read her mind well. She screams a

> lot to get our attention and her needs met.

> >

> > She does have high on top of low tone. Right now we are doing

> activities through NACD. This has helped the high tone,

somewhat...

> She causes the high tone. When she is distracted,the high tone is

> not there...her muscles are relaxed. We did traditional therapy in

> the past, but just weren't seeing progress. I am hoping to try to

> work some in with the new program we are designing. I have your

book

> and in your opinion, what could Dr. Again provide for Eva? I guess

I

> feel like we are always going to some appointment for Eva (this is

> hard for her brother) and we already see Dr Abba Cargan (ped.

neuro)

> and I guess I didn't want to overlap specialists. I'd love to hear

> your thoughts on this...

> >

> > We saw Dr Cargan on Friday and he has said that despite her

motor

> planning issues, her reaction time for an almost 3 year old was

above

> average when she was engaged...like trying to get something you

have

> or avoid me when trying to do deep pressure on her hands. But, she

> could be playing and lean to one side and fall over because she

> didn't put her hand out to stop herself. i don't know what it

means,

> but I thought it was interesting.

> >

> > We actually don't have her on carnitine now...back on Feb of

> 2007, we were seeing a DAN that suggested carnitine based on her

test

> results, but I had difficulty getting it in her and it didn't seem

to

> be doing anything for her, so we stopped. In 2 weeks, we will be

> done with her trial of MB-12 injections and I will try again, since

> she is now swallowing pills. Thank you for the info on

mitochondria

> disease. I printed it out and will pursue testing for it. Who do

> you think would be an appropriate doctor to ask for this? our DAN,

> CHOP genetics?

> >

> > Thanks. Tara

> >

> > :-) tara

> >

> >

> > ---------------------------------

> > Never miss a thing. Make your homepage.

> >

> >

[Guest guest]

Which neuro? We see Dr. Merola at Children's Specialized -- no

neuros at CHOP to date. I was planning on making an appointment for

Tyler there, but they didn't even call me back. I guess the list is

LONG. Please email me offline to let me know which doctor you

weren't happy with, with more details please. I hate wasting time

and money. I'm not sure we even need to go that route. I was just

going to make the CHOP appointment in case.

> > >

> > > Hi , Thanks fr your reply. Here are some answers to your

> > questions. They way Eva gets around is by scooting. So she

plays

> as

> > best as she can given her fine motor delays, but always likes to

be

> > exploring or doing things...especially with her older brother

(he

> is

> > 6)

> > >

> > > Her communication: She is very frustrated. Right now she

has

> a

> > few signs, but she points and we read her mind well. She screams

a

> > lot to get our attention and her needs met.

> > >

> > > She does have high on top of low tone. Right now we are

doing

> > activities through NACD. This has helped the high tone,

> somewhat...

> > She causes the high tone. When she is distracted,the high tone

is

> > not there...her muscles are relaxed. We did traditional therapy

in

> > the past, but just weren't seeing progress. I am hoping to try

to

> > work some in with the new program we are designing. I have your

> book

> > and in your opinion, what could Dr. Again provide for Eva? I

guess

> I

> > feel like we are always going to some appointment for Eva (this

is

> > hard for her brother) and we already see Dr Abba Cargan (ped.

> neuro)

> > and I guess I didn't want to overlap specialists. I'd love to

hear

> > your thoughts on this...

> > >

> > > We saw Dr Cargan on Friday and he has said that despite her

> motor

> > planning issues, her reaction time for an almost 3 year old was

> above

> > average when she was engaged...like trying to get something you

> have

> > or avoid me when trying to do deep pressure on her hands. But,

she

> > could be playing and lean to one side and fall over because she

> > didn't put her hand out to stop herself. i don't know what it

> means,

> > but I thought it was interesting.

> > >

> > > We actually don't have her on carnitine now...back on Feb of

> > 2007, we were seeing a DAN that suggested carnitine based on her

> test

> > results, but I had difficulty getting it in her and it didn't

seem

> to

> > be doing anything for her, so we stopped. In 2 weeks, we will be

> > done with her trial of MB-12 injections and I will try again,

since

> > she is now swallowing pills. Thank you for the info on

> mitochondria

> > disease. I printed it out and will pursue testing for it. Who

do

> > you think would be an appropriate doctor to ask for this? our

DAN,

> > CHOP genetics?

> > >

> > > Thanks. Tara

> > >

> > > :-) tara

> > >

> > >

> > > ---------------------------------

> > > Never miss a thing. Make your homepage.

> > >

> > >

[Guest guest]

I will email you ofline. At the time my son was 13 months, his soft

spot closed early (11 months) and the regular doc was talking CAT

Scan which seemed a bit much despite my concerns for delays which

regular doc was not listening to. This neuro kept it real, said 11

mos was not that early and it is not like they would do surgery over

that so no CAT Scan. So, she was good for what we were there for but

my inquiry about language was received as if language did not come

from the brain and I often have thought that strange. Still, if you

are looking at vestibular stuuf, etc. she may very well be tops. My

son had not had regressions by then so perhaps she was on target.

> > > >

> > > > Hi , Thanks fr your reply. Here are some answers to

your

> > > questions. They way Eva gets around is by scooting. So she

> plays

> > as

> > > best as she can given her fine motor delays, but always likes

to

> be

> > > exploring or doing things...especially with her older brother

> (he

> > is

> > > 6)

> > > >

> > > > Her communication: She is very frustrated. Right now she

> has

> > a

> > > few signs, but she points and we read her mind well. She

screams

> a

> > > lot to get our attention and her needs met.

> > > >

> > > > She does have high on top of low tone. Right now we are

> doing

> > > activities through NACD. This has helped the high tone,

> > somewhat...

> > > She causes the high tone. When she is distracted,the high tone

> is

> > > not there...her muscles are relaxed. We did traditional

therapy

> in

> > > the past, but just weren't seeing progress. I am hoping to try

> to

> > > work some in with the new program we are designing. I have

your

> > book

> > > and in your opinion, what could Dr. Again provide for Eva? I

> guess

> > I

> > > feel like we are always going to some appointment for Eva (this

> is

> > > hard for her brother) and we already see Dr Abba Cargan (ped.

> > neuro)

> > > and I guess I didn't want to overlap specialists. I'd love to

> hear

> > > your thoughts on this...

> > > >

> > > > We saw Dr Cargan on Friday and he has said that despite her

> > motor

> > > planning issues, her reaction time for an almost 3 year old was

> > above

> > > average when she was engaged...like trying to get something you

> > have

> > > or avoid me when trying to do deep pressure on her hands. But,

> she

> > > could be playing and lean to one side and fall over because she

> > > didn't put her hand out to stop herself. i don't know what it

> > means,

> > > but I thought it was interesting.

> > > >

> > > > We actually don't have her on carnitine now...back on Feb

of

> > > 2007, we were seeing a DAN that suggested carnitine based on

her

> > test

> > > results, but I had difficulty getting it in her and it didn't

> seem

> > to

> > > be doing anything for her, so we stopped. In 2 weeks, we will

be

> > > done with her trial of MB-12 injections and I will try again,

> since

> > > she is now swallowing pills. Thank you for the info on

> > mitochondria

> > > disease. I printed it out and will pursue testing for it. Who

> do

> > > you think would be an appropriate doctor to ask for this? our

> DAN,

> > > CHOP genetics?

> > > >

> > > > Thanks. Tara

> > > >

> > > > :-) tara

> > > >

> > > >

> > > > ---------------------------------

> > > > Never miss a thing. Make your homepage.

> > > >

> > > >